rs387906606

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5.5	Ehlers-Danlos Syndrome (EDS) classic type

Make rs387906606(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

134805044

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs387906606
dbSNP (classic)	rs387906606
ClinGen	rs387906606
ebi	rs387906606
HLI	rs387906606
Exac	rs387906606
Gnomad	rs387906606
Varsome	rs387906606
LitVar	rs387906606
Map	rs387906606
PheGenI	rs387906606
Biobank	rs387906606
1000 genomes	rs387906606
hgdp	rs387906606
ensembl	rs387906606
geneview	rs387906606
scholar	rs387906606
google	rs387906606
pharmgkb	rs387906606
gwascentral	rs387906606
openSNP	rs387906606
23andMe	rs387906606
SNPshot	rs387906606
SNPdbe	rs387906606
MSV3d	rs387906606
GWAS Ctlg	rs387906606

Max Magnitude

5.5

ClinVar
Risk	rs387906606(T;T)
Alt	rs387906606(T;T)
Reference	Rs387906606(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome not provided
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type not provided
Reversed	0
HGVS	NC_000009.11:g.137696890C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022486.28, RCV000199830.1,